Clinician’s guide to genes associated with Rett-like phenotypes-Investigation of a Danish cohort and review of the literature-Reference-Cited by-同舟云学术

Clinician’s guide to genes associated with Rett-like phenotypes-Investigation of a Danish cohort and review of the literature

Published:2018-01-25 Issue:2 Volume:95 Page:221-230
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Schönewolf-Greulich B.¹²^ORCID,Bisgaard A-M.¹,Møller R.S.³⁴,Dunø M.⁵,Brøndum-Nielsen K.⁵,Kaur S.⁶⁷,Van Bergen N.J.⁶⁷,Lunke S.⁸,Eggers S.⁸,Jespersgaard C.²,Christodoulou J.⁶⁷,Tümer Z.²

Affiliation:

1. Center for Rett Syndrome, Kennedy Center, Department of Paediatrics; Copenhagen University Hospital, Rigshospitalet; Copenhagen Denmark

2. Applied Human Molecular Genetics, Kennedy Center, Department of Clinical Genetics; Copenhagen University Hospital, Rigshospitalet; Copenhagen Denmark

3. Danish Epilepsy Centre; Dianalund Denmark

4. Institute for Regional Health Services; University of Southern Denmark; Odense Denmark

5. Department of Clinical Genetics; Copenhagen University Hospital, Rigshospitalet; Copenhagen Denmark

6. Neurodevelopmental Genomics Research Group; Murdoch Children's Research Institute; Melbourne Australia

7. Department of Paediatrics; Melbourne Medical School, University of Melbourne; Melbourne Australia

8. Translational Genomics Unit; Murdoch Children’s Research Institute; Melbourne Australia

Funder

Fonden til Laegevidenskabens Fremme

Dr. Louises Børnehospitals Forskningsfond

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/cge.13153/fullpdf

Reference84 articles.

1. On a remarkable syndrome of cerebral atrophy associated with hyperammonaemia in childhood;Rett;Wien Med Wochenschr,2016

2. The Rett girls with preserved speech;Zappella;Brain Dev,1992

3. Rett variants: a suggested model for inclusion criteria;Hagberg;Pediatr Neurol,1994

4. The clinical pattern of the Rett syndrome;Hanefeld;Brain Dev,1985

5. Rett syndrome: report of eight cases;Rolando;Brain Dev,1985

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